Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4721444 Burkitt Leukemia disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 15
C4721437 Charcot-Marie-Tooth disease, Type 4E disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4721411 Osteolysis phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 7
C4704956 Adolescent Overweight phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 4
C4704955 Infant Overweight phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 4
C4704885 Fibrocartilaginous Dysplasia of Bone disease Musculoskeletal Diseases Disease or Syndrome 2
C4704884 Fibrocystic Dysplasia of Bone disease Musculoskeletal Diseases Disease or Syndrome 2
C4704876 Genital Vulvovaginal Candidiasis disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 1
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525
C4704862 Polyarthritis, Juvenile, Rheumatoid Factor Positive disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131
C4554117 Diabetes Mellitus, Sudden-Onset disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44
C4554007 Uveoretinal Coloboma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 7
C4553705 Absence Seizure Disorder disease Nervous System Diseases Disease or Syndrome 7
C4553478 Infantile Obesity phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 4
C4553298 Impulsive Petit Mal Epilepsy disease Nervous System Diseases Disease or Syndrome 4
C4553297 Cystic Echinocccosis disease Infections Disease or Syndrome 3
C4553087 Myoclonic Epilepsy, Juvenile, 1 disease Nervous System Diseases Disease or Syndrome 4
C4552768 Myoclonic Epilepsy, Adolescent disease Nervous System Diseases Disease or Syndrome 4
C4552766 Miscarriage disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 109
C4552765 Epilepsy, Minor disease Nervous System Diseases Disease or Syndrome 7
C4552100 Lynch Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 9
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 3
C4552092 Dowling-Degos disease 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 4
C4552091 Polyarthritis, Juvenile, Rheumatoid Factor Negative disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131
C4552079 Premature Ovarian Failure 1 disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 6